Balci TB et al. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. Eur J Med Genet. 2015;58(6-7):351-4. PMID: 25979662.
Basak A et al. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015;125(6):2363-8. PMID: 25938782.
Cai T et al. Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities. Am J Hematol. 2017;92(12):E653-E656. PMID: 28891213.
Dias C et al. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016;99(2):253-74. PMID: 27453576.
Funnell AP et al. 2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. Blood. 2015;126(1):89-93. PMID: 26019277.
Lévy J et al. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. Am J Med Genet A. 2017;173(8):2081-2087. PMID: 28573701.
Shimbo H et al. Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. Mol Genet Genomic Med. 2017;5(4):429-437. PMID:2871766.
Soblet J et al. BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. Am J Med Genet A. 2018;176(1):201-208. PMID: 28960836.
Yoshida M et al. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet. 2018;93(2):368-373. PMID: 28589569.